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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group; Raffield LM, Reiner AP, Li Y. Kowalski MH, et al. Among authors: peralta jm. PLoS Genet. 2019 Dec 23;15(12):e1008500. doi: 10.1371/journal.pgen.1008500. eCollection 2019 Dec. PLoS Genet. 2019. PMID: 31869403 Free PMC article.
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.
Viel KR, Machiah DK, Warren DM, Khachidze M, Buil A, Fernstrom K, Souto JC, Peralta JM, Smith T, Blangero J, Porter S, Warren ST, Fontcuberta J, Soria JM, Flanders WD, Almasy L, Howard TE. Viel KR, et al. Among authors: peralta jm. Blood. 2007 May 1;109(9):3713-24. doi: 10.1182/blood-2006-06-026104. Epub 2007 Jan 5. Blood. 2007. PMID: 17209060 Free PMC article. Clinical Trial.
Pedigree-based random effect tests to screen gene pathways.
Almeida M, Peralta JM, Farook V, Puppala S, Kent JW Jr, Duggirala R, Blangero J. Almeida M, et al. Among authors: peralta jm. BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S100. doi: 10.1186/1753-6561-8-S1-S100. eCollection 2014. BMC Proc. 2014. PMID: 25519354 Free PMC article.
A variance component-based gene burden test.
Peralta JM, Almeida M, Kent JW Jr, Blangero J. Peralta JM, et al. BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S49. doi: 10.1186/1753-6561-8-S1-S49. eCollection 2014. BMC Proc. 2014. PMID: 25519388 Free PMC article.
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
Chu AY, Deng X, Fisher VA, Drong A, Zhang Y, Feitosa MF, Liu CT, Weeks O, Choh AC, Duan Q, Dyer TD, Eicher JD, Guo X, Heard-Costa NL, Kacprowski T, Kent JW Jr, Lange LA, Liu X, Lohman K, Lu L, Mahajan A, O'Connell JR, Parihar A, Peralta JM, Smith AV, Zhang Y, Homuth G, Kissebah AH, Kullberg J, Laqua R, Launer LJ, Nauck M, Olivier M, Peyser PA, Terry JG, Wojczynski MK, Yao J, Bielak LF, Blangero J, Borecki IB, Bowden DW, Carr JJ, Czerwinski SA, Ding J, Friedrich N, Gudnason V, Harris TB, Ingelsson E, Johnson AD, Kardia SL, Langefeld CD, Lind L, Liu Y, Mitchell BD, Morris AP, Mosley TH Jr, Rotter JI, Shuldiner AR, Towne B, Völzke H, Wallaschofski H, Wilson JG, Allison M, Lindgren CM, Goessling W, Cupples LA, Steinhauser ML, Fox CS. Chu AY, et al. Among authors: peralta jm. Nat Genet. 2017 Jan;49(1):125-130. doi: 10.1038/ng.3738. Epub 2016 Dec 5. Nat Genet. 2017. PMID: 27918534 Free PMC article.
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group. Zekavat SM, et al. Nat Commun. 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. Nat Commun. 2018. PMID: 29973585 Free PMC article.
Reliability of genomic predictions of complex human phenotypes.
Porto A, Peralta JM, Blackburn NB, Blangero J. Porto A, et al. Among authors: peralta jm. BMC Proc. 2018 Sep 17;12(Suppl 9):51. doi: 10.1186/s12919-018-0138-5. eCollection 2018. BMC Proc. 2018. PMID: 30275897 Free PMC article.
247 results